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伴有异常相关畸形的波兰综合征:一例明显结构紊乱性缺损的病例报告

Poland anomaly with unusual associated anomalies: case report of an apparent disorganized defect.

作者信息

Kabra M, Suri M, Jain U, Verma I C

机构信息

Department of Pediatrics, W.H.O. Collaborating Centre in Genetics, All India Institute of Medical Sciences, New Delhi.

出版信息

Am J Med Genet. 1994 Oct 1;52(4):402-5. doi: 10.1002/ajmg.1320520403.

Abstract

We report on a 2 1/2-year-old boy with absence of clavicular head of pectoralis major on the left side, ipsilateral upper limb anomalies, and anomalies of the lower limbs such as popliteal webbing, median cleft of right foot, bifid left hallux, syndactyly of toes, and toenail hypoplasia. Other anomalies included undescended testis, hairy nevus in the lumbosacral region, and a pedunculated finger-like tag on the right thigh. The pathogenesis of these associated anomalies cannot be explained on the basis of compromised local blood supply alone. A possible link with the disorganization mutation is discussed.

摘要

我们报告了一名2岁半的男孩,其左侧胸大肌锁骨头部缺如,同侧上肢存在异常,下肢也有诸如腘窝蹼、右足正中裂、左拇趾裂、并趾及趾甲发育不全等异常情况。其他异常包括隐睾、腰骶部毛痣以及右大腿上一个带蒂的手指状赘生物。这些相关异常的发病机制不能仅基于局部血液供应受损来解释。本文讨论了与紊乱突变的可能联系。

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